Neurology - Research & Surgery

Neurology - Research & Surgery

Open Access
ISSN: 2641-4333
Case Report

Leber’s Disease or Multiple Sclerosis: When Diagnosis is not the Real Challenge

Authors: Kenza Khelfaoui Tredano, Houyam Tibar, Wafa Regragui, Ali Benomar.

DOI: 10.33425/2641-4333.1060


Abstract

We present the case of a 19-year-old Moroccan patient with bilateral severe optic neuropathy resistant to conventional immunomodulatory and immunosuppressive treatments. Brain MRI revealed typical multiple sclerosis (MS) lesions. Lumbar puncture revealed unmatched Oligoclonal Bands (OCB). Given red flags against a typical MS and the bilateral, sequential, and severe visual loss with no improvement of his optic neuritis, investigation for Leber's Hereditary Optic Neuropathy (LHON) was conducted and confirmed the diagnosis genetically. This case highlights the intriguing association of Leber's disease with demyelinating lesions, raising questions about a potential common pathophysiology, and discussing the added value of a maintaining treatment of MS.

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Citation: Kenza Khelfaoui Tredano, Houyam Tibar, Wafa Regragui, et al. Leber’s Disease or Multiple Sclerosis: When Diagnosis is not the Real Challenge. 2024; 7(2). DOI: 10.33425/2641-4333.1060
Editor-in-Chief
Inaki Arrotegui
Inaki Arrotegui
Department of Neurosurgery | Zaragoza University

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Acceptance Rate 80%
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